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2261.
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2262.
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2263.
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2264.
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An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families. [electronic resource] by
- Matus, V
- Valenzuela, G
- Sáez, C G
- Hidalgo, P
- Lagos, M
- Aranda, E
- Panes, O
- Pereira, J
- Pillois, X
- Nurden, A T
- Mezzano, D
Producer: 20140423
In:
Journal of thrombosis and haemostasis : JTH vol. 11
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2265.
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Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome. [electronic resource] by
- Narumi, Yoko
- Min, Byung-Joo
- Shimizu, Kenji
- Kazukawa, Itsuro
- Sameshima, Kiyoko
- Nakamura, Koichi
- Kosho, Tomoki
- Rhee, Yumie
- Chung, Yoon-Sok
- Kim, Ok-Hwa
- Fukushima, Yoshimitsu
- Park, Woong-Yang
- Nishimura, Gen
Producer: 20130805
In:
American journal of medical genetics. Part A vol. 161A
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2266.
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Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. [electronic resource] by
- Mehmood, Sabba
- Jan, Abid
- Muhammad, Dost
- Ahmad, Farooq
- Mir, Hina
- Younus, Muhammad
- Ali, Ghazanfar
- Ayub, Muhammad
- Ansar, Muhammad
- Ahmad, Wasim
Producer: 20161213
In:
The Australasian journal of dermatology vol. 56
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2267.
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2268.
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2269.
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Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India. [electronic resource] by
- Mistri, Mehul
- Mehta, Sanjeev
- Solanki, Dhaval
- Kamate, Mahesh
- Gupta, Neerja
- Kabra, Madhulika
- Puri, Ratna
- Girisha, Katta
- Hariharan, Sankar
- Nampoothiri, Sheela
- Sheth, Frenny
- Sheth, Jayesh
Producer: 20200514
In:
Journal of human genetics vol. 64
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2270.
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2271.
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2272.
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2273.
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Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene. [electronic resource] by
- Dobson-Stone, Carol
- Fairclough, Rebecca
- Dunne, Eimear
- Brown, Joanna
- Dissanayake, Manel
- Munro, Colin S
- Strachan, Tom
- Burge, Susan
- Sudbrak, Ralf
- Monaco, Anthony P
- Hovnanian, Alain
Producer: 20020327
In:
The Journal of investigative dermatology vol. 118
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2274.
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2275.
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Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. [electronic resource] by
- Zeng, B J
- Wang, Z H
- Ribeiro, L A
- Leone, P
- De Gasperi, R
- Kim, S J
- Raghavan, S
- Ong, E
- Pastores, G M
- Kolodny, E H
Producer: 20031014
In:
Journal of inherited metabolic disease vol. 25
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2276.
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2277.
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2278.
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2279.
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2280.
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Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. [electronic resource] by
- Oji, Vinzenz
- Hautier, Juliette Mazereeuw
- Ahvazi, Bijan
- Hausser, Ingrid
- Aufenvenne, Karin
- Walker, Tatjana
- Seller, Natalia
- Steijlen, Peter M
- Küster, Wolfgang
- Hovnanian, Alain
- Hennies, Hans Christian
- Traupe, Heiko
Producer: 20061221
In:
Human molecular genetics vol. 15
Availability: No items available.
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